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Digenic Junctional Epidermolysis Bullosa: Mutations in COL17A1 and LAMB3 Genes
Junctional epidermolysis bullosa (JEB), a genetically heterogeneous group of blistering skin diseases, can be caused by mutations in the genes encoding laminin 5 or collagen XVII, which are components of the hemidesmosome-anchoring filament complex in the skin. Here, a family with severe nonlethal J...
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| Main Authors: | , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The American Society
of Human Genetics
1999
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288363/ https://ncbi.nlm.nih.gov/pubmed/10577906 |
| Oznake: |
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